Varaico: Literature-Extracted Genetic Variants

Gene:CAT
Variant:p.D498D
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CAT

NM_001752.4:p.D498D

Associated Papers

[Function study of non-syndromic deafness associated mitochondrial 12S rRNA A839G mutation].

Yu X et al.

Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi = Chinese Journal of Otorhinolaryngology Head and Neck Surgery, 2014

[Mitochondrial 12S rRNA A1555G mutation associated with nonsyndromic hearing loss in twenty-five Han Chinese pedigrees].

Peng GH et al.

Yi Chuan = Hereditas, 2013

[Study of mtDNA 12S rRNA A1555G, GJB2, GJB3 gene mutation in Uighur and Han people with hereditary nonsyndromic hearing loss in Xinjiang].

Li YH et al.

Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi = Chinese Journal of Otorhinolaryngology Head and Neck Surgery, 2010

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."